Blog

Message from the Executive Chairman - Dec 2017

Merry Christmas

Dear All

Firstly, I would like to take the opportunity to thank all HVP members for their contributions over the course of 2017. It has been a big year for us. As you know, it has been just over a year since I took over as Chair of the GV Board and during that time, there has been a lot of activity. We have seen open and transparent data sharing take off internationally, with substantially more interest in the core business of areas of HVP.

In particular, I would like to acknowledge the members of the various Councils of HVP – International Scientific Advisory Committee (ISAC), Gene/Disease Specific Database Advisory Council (G/DSDBAC) and International Confederation of Countries Advisory Council (ICCAC). Together with the Global Variome Board, these individuals make a valuable contribution to the work of HVP. Our achievements are the result of the work done by many of you who are based in research institutes, academic bodies, laboratories and the like. Linking up our activities and learning from each other underpins the progress of HVP.

Discussions are continuing to align the LOVD databases, run by Johan den Dunnen, with the data centre under construction to support Genomics England. Johan has been very active leading our outreach and educational programmes. Activities this year have included the very successful academic meeting in Santiago de Compostela, a 3Gb training course in Mexico City and a well-supported Variant Interpretation training meeting in Prague. In 2018, we will seek to align our programme with the activities of the European Society of Human Genetics (ESHG) and organise another Variant Interpretation meeting in the East, possibly taking advantage of the Newcastle Medical Faculty facilities in southern Malaysia, adjacent to the Singapore border, offering excellent international travel links.

We are continuing to develop the BRCA Challenge in collaboration with the Global Alliance for Genomics and Health, which is now led by Ewan Birney, head of the European Bioinformatics Institute based at Hinxton, Cambridge. The recent presentation of the GA4GH reorganisation included recognition of the BRCA Challenge as a Driver Project. The related website www.BRCAexchange.org is now live and continues to be developed alongside the BRCapp. James Cotton has pledged support to the app development and has been making great efforts to fundraise in Australia. I had the pleasure to spend time with him in September and to make a presentation in support of our efforts to potential donors.

Our major meeting of 2018 will be the joint meeting with HUGO in Yokohama in March (13-15th). This will include a dedicated session for HVP in addition to a satellite meeting devoted to the BRCA Challenge. All HVP members are encouraged to join this meeting if they are able. A face-to-face meeting of the ISAC is planned as well as a joint Board meeting with HUGO. Discussions are also underway to link more closely to the Human Genetic Variation Society (HGVS) and to have this recognised as a standard within GA4GH.

Last but not least, I would like to highlight our work in low and middle income countries at this point too. Largely through the Global Globin 2020 Challenge, we are promoting the use of genomic techniques in the area of haemoglobinopathies. In the past two years, we have learned that:

• knowledge from post-genomics era needs to penetrate more deeply into the haemoglobinopathies world• Have begun the process of improving the proper annotation of the genomics information with high quality phenotypic data across diverse populations – ITNATE and CLINVar relationship and international expert panel – this will help with promoting standardised and harmonised approaches• Better diagnosis will underpin improvement in the treatment and management of these conditions as the problem is increasing as a result of poor management of conditions, population growth, lack of public awareness of carrier status and its implications, movement of people

As a result of this work a gap has been identified - the lack of a simple, cheap and effective device to be used in remote locations would greatly assist - the problem is ripe for innovative approaches. Efforts will continue in 2018 to try to bridge this gap.

Thanks to all who give their time and support to the Human Variome Project. This continues to be a great initiative. We can make a real contribution to global healthcare by continuing to facilitate the sharing of genomic data in healthcare.